Defining Treatment Parameters for Angelman Syndrome
- Ben Philpot, Ph.D. – University of North Carolina, Chapel Hill
- Ype Elgersma, Ph.D. – Erasmus Medical Center, Rotterdam, Netherlands
$400,000 (2 years – $200,000 per institute)
A previously developed mouse model for Angelman syndrome (AS) enables the maternal copy of the Ube3a gene to be turned on and off. By activating the Ube3a gene at different stages of the mice’ lives, it will help the research community define the optimal age window for AS treatment. The team will also research how broadly the gene needs to be turned on in specific regions of the brain to affect treatment. Investigators will determine whether AS therapeutics need to be maintained throughout life, or if AS only needs to be treated during early life.